HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132352C= , CM000669.2:g.147132352C= | GRCh38 |
NC_000007.13:g.146829444C= , CM000669.1:g.146829444C= | GRCh37 |
NC_000007.12:g.146460377C= | NCBI36 |
NG_007092.2:g.1020992C= | |
NG_007092.3:g.1021352C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1191C= MANE Select | ENSP00000354778.3:p.Val397= | |
ENST00000636561.1:n.1094C= | ||
ENST00000636870.1:n.1053C= | ||
ENST00000637150.1:n.1120C= | ||
ENST00000637694.1:n.1094C= | ||
ENST00000637825.1:n.674C= | ||
ENST00000638117.1:n.1094C= | ||
ENST00000361727.7:c.1191C= | ENSP00000354778.3:p.Val397= | |
NM_014141.5:c.1191C= | NP_054860.1:p.Val397= | |
XM_017011950.2:c.1191C= | XP_016867439.1:p.Val397= | |
NM_014141.6:c.1191C= MANE Select | NP_054860.1:p.Val397= |